LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.

Watkins, Michael T; Kohlmann, Wendy K; Berry, Therese S; Sama, Neetha R; Koptiuch, Cathryn; Rynearson, Shawn G; Eilbeck, Karen L

Watkins, Michael T; Kohlmann, Wendy K; Berry, Therese S; Sama, Neetha R; Koptiuch, Cathryn; Rynearson, Shawn G; Eilbeck, Karen L.

Afiliação

Watkins MT; University of Utah, Salt Lake City, UT.
Kohlmann WK; Huntsman Cancer Institute, Salt Lake City, UT.
Berry TS; Huntsman Cancer Institute, Salt Lake City, UT.
Sama NR; Huntsman Cancer Institute, Salt Lake City, UT.
Koptiuch C; Huntsman Cancer Institute, Salt Lake City, UT.
Rynearson SG; University of Utah, Salt Lake City, UT.
Eilbeck KL; University of Utah, Salt Lake City, UT.

AMIA Annu Symp Proc ; 2022: 1145-1152, 2022.

Article em En | MEDLINE | ID: mdl-37128447

Assuntos

Bases de Dados Genéticas; Variação Genética; Humanos; Genoma Humano

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Bases de Dados Genéticas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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